Article

The LRRK2 Arg1628Pro variant is a risk factor for Parkinson's disease in the Chinese population.

Neuroscience Research Center, Chang Gung Memorial Hospital, Chang Gung University, Taipei, Taiwan.
Neurogenetics (Impact Factor: 3.58). 09/2008; 9(4):271-6. DOI: 10.1007/s10048-008-0140-6
Source: PubMed

ABSTRACT The c.G4883C variant in the leucine-rich repeat kinase 2 (LRRK2) gene (protein effect: Arg1628Pro) has been recently proposed as a second risk factor for sporadic Parkinson's disease in the Han Chinese population (after the Gly2385Arg variant). In this paper, we analyze the Arg1628Pro variant and the associated haplotype in a large sample of 1,337 Han subjects (834 patients and 543 controls) ascertained from a single referral center in Taiwan. In our sample, the Arg1628Pro allele was more frequent among patients (3.8%) than among controls (1.8%; p = 0.004, OR 2.13, 95% CI 1.29-3.52). Sixty heterozygous and two homozygous carriers of the Arg1628Pro variant were identified among the patients, of which only one was also a carrier of the LRRK2 Gly2385Arg variant. We also show that carriers of the Arg1628Pro variant share a common, extended haplotype, suggesting a founder effect. Parkinson's disease onset age was similar in patients who carried the Arg1628Pro variant and in those who did not carry it. Our data support the contention that the Arg1628Pro variant is a second risk factor for Parkinson's disease in the Han Chinese population. Adding the estimated effects of Arg1628Pro (population attributable risk [PAR] approximately 4%) and Gly2385Arg variants (PAR approximately 6%) yields a total PAR of approximately 10%.

0 Bookmarks
 · 
126 Views
  • [Show abstract] [Hide abstract]
    ABSTRACT: Non-motor symptoms (NMS) are common among patients with Parkinson's disease (PD). However, reports on NMS in Chinese PD population are scarce. Little is known about NMS in patients with Asian specific leucine-rich repeat kinase 2 (LRRK2) variants in G2385R and R1628P. This study aimed to elucidate the clinical characteristics of NMS in Chinese PD patients and to ascertain if there were differences in NMS between PD patients with and without LRRK2 variants. A multicenter, observational study was conducted with 1,225 sporadic PD (sPD) patients recruited from a PD cohort of the Chinese National Consortium on neurodegenerative diseases, 163 participants had the LRRK2 variants. The Non-motor Symptom Questionnaire (NMSQ) was used to screen for the presence of NMS. This study found the majority of sPD patients (97.6 %) had at least one NMS. A mean of 8.72 NMS (SD = 5.43) was reported per patient. Forgetfulness, constipation and daytime sleepiness were found to be the most frequent NMS. Moreover, the number of NMS was positively correlated with the age, disease duration, Hoehn & Yahr stage and the motor scores of the unified Parkinson's disease rating scale. Although no discrepancy was found in the number of NMS between sPD patients with and without LRRK2 variants, nocturia was less common in LRRK2 variants carriers than in non-carriers (P = 0.045). NMS appear to be prevalent in Chinese sPD population. There are no differences in the NMS phenotype between LRRK2 and no LRRK2 patients.
    Journal of neural transmission (Vienna, Austria : 1996). 07/2014;
  • [Show abstract] [Hide abstract]
    ABSTRACT: Non-motor symptoms (NMS) are common in patients with Parkinson's disease (PD). However, little is known about NMS in patients with mutant of leucine-rich repeat kinase 2 (LRRK2). This study aimed to elucidate the relationship between NMS in Chinese PD patients and to ascertain if there were differences in NMS between PD patients and mutant of LRRK2. 200 sporadic PD (sPD) patients were recruited from a Provincial Hospital Affiliated to Shandong University. The Non-motor Symptom Questionnaire (NMSQ) was used to screen for the presence of NMS. A mean of 9.73 NMS (SD=4.53) was reported per patient. Forgetfulness, constipation and daytime sleepiness were found to be the most frequent NMS. No differences were found in 9 domains analysis between PD with and without LRRK2 variants. Non-motor symptoms in PD are too important to remain undetected. There are no Clinical characteristics of NMS tend to be similar between LRRK2 variants carriers and non-carriers in Chinese sPD patients.
    International Journal of Clinical and Experimental Medicine 01/2014; 7(8):2253-7. · 1.42 Impact Factor
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: The LRRK2 gene has been associated with both familial and sporadic forms of Parkinson's disease (PD). The G2019S variant is commonly found in North African Arab and Caucasian PD patients, but this locus is monomorphic in Asians. The G2385R and R1628P variants are associated with a higher risk of developing PD in certain Asian populations but have not been studied in the Malaysian population. Therefore, we screened the G2385R and R1628P variants in 1,202 Malaysian subjects consisting of 695 cases and 507 controls. The G2385R and R1628P variants were associated with a 2.2-fold (P = 0.019) and 1.2-fold (P = 0.054) increased risk of PD, respectively. Our data concur with other reported findings in Chinese, Taiwanese, Singaporean, and Korean studies.
    BioMed Research International 01/2014; 2014:867321. · 2.71 Impact Factor

Full-text (2 Sources)

Download
66 Downloads
Available from
May 29, 2014